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Gene conversion-like mechanisms may generate polymorphism in human class I genes.
The nucleotide sequences of the human class I major histocompatibility complex genes HLA-B27k and HLA-B27w have been determined. They differ by only four nucleotides over a stretch of 14 bp in exon 2, resulting in three amino acid exchanges at positions 77 (Asp to Asn), 80 (Thr to Ile) and 81 (Leu to Ala). The distribution of these nucleotide substitutions suggests a gene conversion-like event responsible for the generation of these HLA-B27 subtypes. The mechanisms underlying the generation of new polymorphic variants in man are therefore probably identical to the gene conversion-like events postulated in the generation of H-2Kbm class I mutants in the mouse.
PMID: 3011411 [PubMed - indexed for MEDLINE]
PMCID: PMC1166797
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Cited by 9 PubMed Central articles
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Nature of polymorphism in HLA-A, -B, and -C molecules.
Parham P, Lomen CE, Lawlor DA, Ways JP, Holmes N, Coppin HL, Salter RD, Wan AM, Ennis PD.
Proc Natl Acad Sci U S A. 1988 Jun; 85(11):4005-9.
[Proc Natl Acad Sci U S A. 1988]
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Crosses of two independently derived transgenic mice demonstrate functional complementation of the genes encoding heavy (HLA-B27) and light (beta 2-microglobulin) chains of HLA class I antigens.
Krimpenfort P, Rudenko G, Hochstenbach F, Guessow D, Berns A, Ploegh H.
EMBO J. 1987 Jun; 6(6):1673-6.
[EMBO J. 1987]
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Age-related development of a heterozygous phenotype in solitary neurons of the homozygous Brattleboro rat.
van Leeuwen F, van der Beek E, Seger M, Burbach P, Ivell R.
Proc Natl Acad Sci U S A. 1989 Aug; 86(16):6417-20.
[Proc Natl Acad Sci U S A. 1989]
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